Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6925
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCF4
Synonyms (NCBI Gene) Gene synonyms aliases
CDG2T, E2-2, FCD2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box (`E-box`) binding site (`CANNTG`) - a motif first identified in immunoglobulin enhancers. This gene is broadly expresse
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121909120 G>A,T Likely-pathogenic, pathogenic Missense variant, synonymous variant, coding sequence variant
rs121909121 C>T Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121909122 G>A Pathogenic Stop gained, coding sequence variant
rs121909123 C>G,T Pathogenic Missense variant, coding sequence variant
rs139876825 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005846 hsa-miR-204-5p Luciferase reporter assay, Microarray, qRT-PCR 21282569
MIRT020336 hsa-miR-130b-3p Sequencing 20371350
MIRT031229 hsa-miR-19b-3p Sequencing 20371350
MIRT051694 hsa-let-7e-5p CLASH 23622248
MIRT053443 hsa-miR-203a-3p Microarray 23807165
Transcription factors
Transcription factor Regulation Reference
EGR1 Activation 18798221
HOXB1 Repression 15126340
HOXB13 Repression 15928669
LEF1 Unknown 19174556
RUNX3 Activation 24447505
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 21880741
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12651860
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602272 11634 ENSG00000196628
Protein
UniProt ID P15884
Protein name Transcription factor 4 (TCF-4) (Class B basic helix-loop-helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2)
Protein function Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostati
PDB 2KWF , 6OD3 , 6OD4 , 6OD5 , 8OSB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 565 618 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.
Sequence
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLE
QQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA
SNHMGQM
Sequence length 667
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Myogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs878853149, rs1599375711, rs398123561 N/A
Microcephaly microcephaly rs1555710223, rs121909123 N/A
Pitt-Hopkins Syndrome pitt-hopkins syndrome rs1600861021, rs1555711245, rs587784464, rs797046035, rs1568303086, rs1057519592, rs398123561, rs751190049, rs1600866162, rs1555718426, rs797046034, rs1568471940, rs1057521070, rs587784462, rs1555721921
View all (70 more)
N/A
autism spectrum disorder Autism spectrum disorder rs587784464 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Corneal Dystrophy Fuchs' endothelial dystrophy N/A N/A GenCC
Corneal Endothelial Dystrophy corneal dystrophy, Fuchs endothelial, 3, corneal dystrophy, fuchs endothelial, 3 N/A N/A GenCC, ClinVar
Crohn Disease Surgical recurrence in Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23224985
Adenocarcinoma of Lung Associate 23224985
Adenoma Associate 15972967, 18268006, 18992165
Adenomatous Polyposis Coli Inhibit 10514384
Adenomatous Polyposis Coli Associate 15972967, 30072583
Adenomatous Polyposis Coli Stimulate 35537038
Adrenoleukodystrophy Associate 23437103
Alzheimer Disease Associate 16306047
Angelman Syndrome Associate 24058414
Anorectal Malformations Associate 23127126